Laura Vilarinho
National Institute of Health Dr. Ricardo Jorge(PT)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Mitochondrial Function and Pathology, Folate and B Vitamins Research, Amino Acid Enzymes and Metabolism, Neonatal Health and Biochemistry
Most-Cited Works
- → Guidelines for diagnosis and management of the cobalamin‐related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency(2016)310 cited
- → Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010(2021)225 cited
- → Identification of a Novel Mutation in the mtDNA ND5 Gene Associated with MELAS(1997)170 cited
- → Clinical presentation and outcome in a series of 88 patients with the cblC defect(2014)165 cited
- → Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Newborn screening and its relationship to the diagnosis and treatment of the disorder(1993)161 cited
- → Detailed glycan analysis of serum glycoproteins of patients with congenital disorders of glycosylation indicates the specific defective glycan processing step and provides an insight into pathogenesis(2003)157 cited